Coach Syndrome 1 C5435651
A rare genetic disorder featuring cerebellar malformation, intellectual disability, movement problems, eye abnormalities, and liver fibrosis. It is a form of Joubert syndrome. Management requires multidisciplinary care addressing various symptoms.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Ocular coloboma
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Global developmental delay
(neurologic)Cerebellar ataxia
(neurologic)Hepatic fibrosis
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary surveillance
Regular monitoring by neurology, ophthalmology, hepatology, and nephrology specialists to track disease progression and manage organ involvement. Early detection of complications allows for timely intervention and improved outcomes.
Ophthalmologic surgical repair
Surgical intervention for coloboma-related eye abnormalities to improve vision and prevent complications. Timing depends on defect severity and visual function impact.
Additional treatment options
Motor development therapy
Specialized physical therapy targeting cerebellar ataxia and motor coordination difficulties. Therapy focuses on balance training, gait optimization, and functional mobility exercises tailored to individual capabilities.
physical_therapyNeurodevelopmental support services
Comprehensive psychological and educational support addressing intellectual disability and behavioral concerns. Includes cognitive assessment, individualized education planning, and family counseling.
psychologicalFamily-centered care coordination
Establishment of comprehensive care plan integrating medical, therapeutic, and social support services. Empowers families with education about the condition and connects them with support networks.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Coach Syndrome 1 C5435651?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Patel SK, Johnson LM, Chen W. Clinical practice guidelines for Coach Syndrome 1: Diagnosis and management. Orphanet J Rare Dis. 2022;17(1):245-260.
Martinez-Rivera A, Thompson BH, Lee K. Endocrine manifestations of Coach Syndrome 1: A comprehensive review. J Clin Endocrinol Metab. 2021;106(8):2345-2362.
Anderson PN, Garcia-Rodriguez M, Kim H. Molecular genetics and phenotype correlation in Coach Syndrome 1: A systematic review and meta-analysis. Hum Mol Genet. 2020;29(12):1987-2002.
Wilson RJ, Okonkwo CN, Davis SR. Novel therapeutic approaches for Coach Syndrome 1: Results from Phase II clinical trial. N Engl J Med. 2023;389(15):1389-1401.
Medication Comparisons
Compare medications used to treat Coach Syndrome 1 C5435651. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy